Canonical Allele Identifier: CA915944918
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 804859
ClinVar RCV Id: RCV000992066 RCV002463767
dbSNP Id: rs1583596119
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44147667del , CM000669.2:g.44147667del GRCh38
NC_000007.13:g.44187266del , CM000669.1:g.44187266del GRCh37
NC_000007.12:g.44153791del NCBI36
NG_008847.1:g.46759del
NG_008847.2:g.55506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*846del ENSP00000379142.4:n.*846del
ENST00000616242.5:c.848del ENSP00000482149.2:p.Asn283ThrfsTer4
ENST00000345378.7:c.851del ENSP00000223366.2:p.Asn284ThrfsTer11
ENST00000403799.8:c.848del MANE Select ENSP00000384247.3:p.Asn283ThrfsTer11
ENST00000671824.1:c.848del ENSP00000500264.1:p.Asn283ThrfsTer21
ENST00000673284.1:c.848del ENSP00000499852.1:p.Asn283ThrfsTer11
ENST00000345378.6:c.851del ENSP00000223366.2:p.Asn284ThrfsTer11
ENST00000395796.7:c.845del ENSP00000379142.3:p.Asn282ThrfsTer11
ENST00000403799.7:c.848del ENSP00000384247.3:p.Asn283ThrfsTer11
ENST00000437084.1:c.797del ENSP00000402840.1:p.Asn266ThrfsTer11
ENST00000616242.4:c.845del ENSP00000482149.1:p.Asn282ThrfsTer11
NM_000162.3:c.848del NP_000153.1:p.Asn283ThrfsTer11
NM_033507.1:c.851del NP_277042.1:p.Asn284ThrfsTer11
NM_033508.1:c.845del NP_277043.1:p.Asn282ThrfsTer11
NM_000162.4:c.848del NP_000153.1:p.Asn283ThrfsTer11
NM_001354800.1:c.848del NP_001341729.1:p.Asn283ThrfsTer11
NM_033507.2:c.851del NP_277042.1:p.Asn284ThrfsTer11
NM_033508.2:c.845del NP_277043.1:p.Asn282ThrfsTer11
NM_000162.5:c.848del MANE Select NP_000153.1:p.Asn283ThrfsTer11
NM_033507.3:c.851del NP_277042.1:p.Asn284ThrfsTer11
NM_033508.3:c.845del NP_277043.1:p.Asn282ThrfsTer11
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